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Alagille Syndrome: more detail

Alagille syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Sonja Eubanks, 2005

Alagille Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19

Alagille syndrome with prominent skin manifestations.(Case Report) : An article from: Indian Journal of Dermatology, Venereology and Leprology by Sujata Sengupta, Jayanta Das, et all 2005-03-01

lists with details

Health Library - Alagille Syndrome
Saint Luke's Health System eLibrary. alagille syndrome. Self Help Clearinghouse.alagille syndrome Alliance. National network.
http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29
Health Library - Alagille Syndrome
alagille syndrome. Synonyms Disorder Subdivisions General Discussion Resources AlagilleSyndrome is a genetic liver disorder usually present at birth.
http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid
Alagille Syndrome
one click For Medical Professionals only. alagille syndrome,, Printthis article, (Daniel Alagille, born 1925, French paediatrician
http://www.amershamhealth.com/medcyclopaedia/Volume V 2/ALAGILLE SYNDROME.asp

Extractions: *For Medical Professionals only, registration required Alagille syndrome, (Daniel Alagille, born 1925, French paediatrician), an autosomal dominant disorder of variable severity ranging from causing jaundice and heart failure in neonates to being asymptomatic in some heterozygotes. The major cardiac feature is peripheral pulmonary artery stenosis . Hypertension may be the result of renal artery stenosis . Hepatic failure and cirrhosis frequently dominate the clinical presentation.
Alagille Syndrome
alagille syndrome,, Print this article, (Danielle Alagille, born 1925,French paediatrician), syndrome that typically presents with
http://www.amershamhealth.com/medcyclopaedia/Volume VII/ALAGILLE SYNDROME.asp

Extractions: *For Medical Professionals only, registration required Alagille syndrome, (Danielle Alagille, born 1925, French paediatrician), syndrome that typically presents with cholestatic jaundice in the neonatal period due to hypoplasia of the intralobular bile ducts. Associated abnormalities are facial dysmorphism, with a triangular face and low set ears, pulmonary stenosis and vertebral abnormalities and eye anomalies which include pigment clumping, chorioretinal atropy and posterior embryotoxon. Cytogenetic abnormalities are common. Butterfly vertebrae, or fused vertebrae are found on spinal radiographs. The liver echodensity may be increased at ultrasound examination but it is structurally normal. Radionuclide imaging shows slow bile excretion. The diagnosis is made by the demonstration of three of the five major manifestations: facial abnormalities, cholestasis, peripheral pulmonary artery stenosis or hypoplasia, posterior ocular embryotoxon and butterfly vertebrae. See
1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders
Sites. alagille syndrome Alliance Worldwide support network for peoplewho care about people with alagille syndrome hosted by talkcity.
http://www.1uphealth.com/links/genetic-disorders-alagille-syndrome.html
ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orphelins
Translate this page Syndromic paucity of interlobular bile ducts (alagille syndrome or arteriohepaticdysplasia) Review of 80 cases. alagille syndrome and deletion of 20p.
http://orphanet.infobiogen.fr/data/patho/FR/fr-alagille.html
Abnormalities, Multiple
Back to previous level alagille syndrome Search PUBMED for alagille syndromeAll Review Therapy Diagnosis; alagille syndrome; AGS; alagille syndrome Amer.
http://www.ohsu.edu/cliniweb/C16/C16.131.77.html
Electron Beam Angiography:pulmonary Vessels
Pulmonary artery anomalies Case 040 alagille syndrome 2 year old girlwith alagille syndrome, including peripheral pulmonic stenosis.
http://picubook.net/EB/english/other/images/cardiac/PVessels/PVessel.htm

Extractions: Paul T. Pitlick MD , The Division of Pediatric Cardiology, and Geoffrey Rubin MD , The Department of Radiology, Stanford University School of Medicine , and Lucile Packard Children's Hospital , Palo Alto, California 94304 USA angiography Pulmonary arterial and venous anomalies Pulmonary vein anomalies [Case# 034]: Total Anomalous Pulmonary Venous Return 3 month old boy with total anomalous pulmonary venous return to the innominate. This had been repaired as a neonate.
GeneClinics : Alagille Syndrome
Back to whats new page. GeneClinics alagille syndrome, Notes forphysicians of Washington, Seattle. alagille syndrome / genetics.
http://omni.ac.uk/whatsnew/detail/1103676.html

Extractions: Back to whats new page. GeneClinics : Alagille Syndrome Notes for physicians on Alagille Syndrome (Arteriohepatic Dysplasia, AHD) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during May 2000, this resource forms part of GeneClinics, a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. Alagille Syndrome / genetics
GeneReviews : Alagille Syndrome
Back to whats new page. GeneReviews alagille syndrome, Notes for physicians requiresbrief registration. alagille syndrome / genetics.
http://omni.ac.uk/whatsnew/detail/2023406.html

Extractions: Back to whats new page. GeneReviews : Alagille Syndrome Notes for physicians on Alagille Syndrome (Arteriohepatic Dysplasia, AHD) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during May 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review, free access to the full-text version of the review requires brief registration. Alagille Syndrome / genetics
Cell And Molecular Biology: Faculty: Nancy Spinner
Having identified Jagged1 as the cause of a pediatric disorder (alagille syndrome)in 1997, we have been actively involved in continuing studies of this gene
http://www.med.upenn.edu/camb/fac/Spinner.html

Extractions: Determining the complete range of clinical manifestations of JAG1 mutations Determining how missense mutations lead to lack of function of JAG1 Studying other members of the Notch signaling pathway to determine if they play a role in congenital disease. Studies of newly identified, small chromosome abnormalities in the subtelomeric regions of the genome, to identify additional genes important in human development. References Li, L., Krantz, I.D., Deng, Y., Genin, A., Banta, A.B., Collins, C.C., Qi, M., Trask, B.J., Kuo, W.L., Cochran, J., Costa, T., Pierpont, M.E.M., Rand, E.B., Piccoli, D.A.P., Hood, L. and Spinner, N.B. (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nature Genet. 16:243-251.
JAG1
CM993737, 25, gCGATGA, Arg-Term, alagille syndrome, 1. CM003434, 33, GGT-GAT,Gly-Asp, alagille syndrome, 2. CM003435, 37, TTG-TCG, Leu-Ser, alagille syndrome,2.
http://www.uwcm.ac.uk/uwcm/mg/ns/1/6175920.html

Extractions: Number Codon Nucleotide Amino acid Phenotype Reference gCGA-TGA Arg-Term Alagille syndrome GGT-GAT Gly-Asp Alagille syndrome TTG-TCG Leu-Ser Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gGAG-TAG Glu-Term Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome TGC-TCC Cys-Ser Alagille syndrome CTC-CAC Leu-His Alagille syndrome cGCC-ACC Ala-Thr Alagille syndrome CCG-CGG Pro-Arg Alagille syndrome ATT-ACT Ile-Thr Alagille syndrome CCC-CTC Pro-Leu Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gTAT-AAT Tyr-Asn Alagille syndrome cCGC-TGC Arg-Cys Alagille syndrome cCGC-GGC Arg-Gly Alagille syndrome CGC-CAC Arg-His Alagille syndrome CGC-CTC Arg-Leu Alagille syndrome TGT-TCT Cys-Ser Alagille syndrome TACt-TAG Tyr-Term Alagille syndrome TGC-TTC Cys-Phe Alagille syndrome aTGT-GGT Cys-Gly Alagille syndrome TGT-TAT Cys-Tyr Alagille syndrome cCGA-TGA Arg-Term Alagille syndrome TATg-TAA Tyr-Term Alagille syndrome gCAA-TAA Gln-Term Alagille syndrome GGC-GAC Gly-Asp Tetralogy of Fallot TGT-TTT Cys-Phe Alagille syndrome TGGg-TGC Trp-Cys Alagille syndrome TGTc-TGA Cys-Term Alagille syndrome tGAG-TAG Glu-Term Alagille syndrome tGAG-TAG Glu-Term Alagille syndrome gGAG-TAG Glu-Term Alagille syndrome cGGG-AGG Gly-Arg Alagille syndrome cCAG-TAG Gln-Term Alagille syndrome tAAG-TAG Lys-Term Alagille syndrome aCAG-TAG Gln-Term Alagille syndrome TACt-TAG Tyr-Term Alagille syndrome TGT-TTT Cys-Phe Alagille syndrome
JAG1
Reference. CD003193, 12, CGGG^CGCCcCCTAAGCCTCCT, alagille syndrome,1. CD993773, 13, GGGCGC^CCCCtAAGCCTCCTG, alagille syndrome, 2. CD003518,
http://www.uwcm.ac.uk/uwcm/mg/ns/4/6175920.html

Extractions: codon Deletion Phenotype Reference CGGG^CGCCcCCTAAGCCTCCT Alagille syndrome GGGCGC^CCCCtAAGCCTCCTG Alagille syndrome CCCTG^CTCTGtgCCCTGCGAGC Alagille syndrome TGCTC^TGTGCcCTGCGAGCCA Alagille syndrome CTGTGCC^CTGcgagccaag_E1I1_gtaGGAGCCCTTC Alagille syndrome AACGGG^GAGCtGCAGAACGGG Alagille syndrome CCGCGAC^GAGtgtgacacatacttcAAAGTGTGCC Alagille syndrome CGAATGT^AACagAG_E4I4_GTATGTGT Alagille syndrome GTGTCTCCAG_I5E6_gtgccag^TATGGCACTC Alagille syndrome AGTGC^CTCTGtgAGACCAACTG Alagille syndrome GGAG^ACCTCcCTGGGCTTTGA Alagille syndrome GGCTTT^GAGTgtGAGTGTTCCC Alagille syndrome ACGGA^TTTAAgTGTGTGTGCC Alagille syndrome CCCCA^CAGTGgACTGGGAAAA Alagille syndrome CTGT^CGG_E11I11_GTAtgtaaatcTTTGCTTAAA Alagille syndrome TCCCCTTCTCctcttctaG_I11E12_^GATTTGGTT Alagille syndrome CACTGT^GAGAgaGACATCGATG Alagille syndrome GTGAG^AGAGAcaTCGATGAATG Alagille syndrome GAGAGA^GACAtCGATGAATGT Alagille syndrome CCAGC^AACCCctGTTTGAATGG Alagille syndrome ACCCC^TGTTTgaatGGGGGTCACT Alagille syndrome CAGTGT^CTGTgtCCCACTGGTT Alagille syndrome TCTGC^AAGTGcCCCGAGGACT Alagille syndrome GCACG^ACCCCctGTGAAG_E13I13_GTAC Alagille syndrome AGTGGCC^ATGgCTTCCAACGA Alagille syndrome GTCTGT^GGTCcTCACGGGAAG Alagille syndrome GGTCCT^CACGgGAAGTGCAAG Alagille syndrome CTGTGAC^TGTaacaaagGCTTCACGGG Alagille syndrome TTAAT^GACTGtgAGAGCAACCC Alagille syndrome AATGGG^TGGAaAGGAAAGACC Alagille syndrome GGGTGG^AAAGgaaagACCTGCCACT Alagille syndrome AAGGA^AAGACcTGCCACTCAC Alagille syndrome GACCTGC^CACtCAC_E16I16_GTAAGTG
Alagille
alagille syndrome. alagille syndrome Alliance,. 10630SW Garden Park Pl. Tigard, OR 97223. (503) 6396217.
http://www.childhealthinfo.com/alagille.htm
Dorlands Medical Dictionary
alagille syndrome, an autosomal dominant syndrome of neonatal jaundice, cholestasiswith peripheral pulmonic stenosis, and occasionally septal defects or
http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS
Searchalot Directory For Alagille Syndrome
Related Web Sites. Pediatric Database A definition of alagille syndrome, theepidemiology, pathogenesis, clinical features, investigations and management.
http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Alag

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Peninsula Molecular Genetics Laboratory, Exeter, UK
JAG1 GENE ANALYSIS IN alagille syndrome. Cost Known mutation, £76.88. Sequencingof exons 122, £1025.00. Download alagille syndrome request form.
http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/alagille.htm

Extractions: GENE ANALYSIS IN ALAGILLE SYNDROME Germline mutations in the gene are found in approximately 70% of patients who meet clinical diagnostic criteria. Between 50-60% of cases result from a de novo mutation. If the parents of a proband do not have clinical features of Alagille syndrome, sibs of the proband are at low, but slightly increased risk due to germline mosaicism. analysis of exons 1-26 by sequencing
International Society For Pediatric Neurosurgery
Moyamoya disease associated with alagille syndrome. Objectives To show that theassociation between moyamoya disease and alagille syndrome is coincidental.
http://www.ispn.org/Meetings/Istanbul/Poster41.htm
National Human Genome Research Institute - Talking Glossary Of Genetic Terms
Dr. Settara Chandrasekharappa, of the National Human Genome Research Institute'sGenetics and Molecular Biology Branch, defines alagille syndrome.
http://www.genome.gov/glossary.cfm?key=alagille syndrome
Abstract
Vertebral anomalies in children with alagille syndrome an analysis of 50 consecutivepatients. Keywords. Spine Biliary - Congenital - alagille syndrome,
http://link.springer-ny.com/link/service/journals/00247/contents/01/00599/s00247

Extractions: Evelyn Sanderson , Vanessa Newman , Susan F. Haigh , Alastair Baker and Paul S. Sidhu Department of Clinical Radiology, King's College Hospital, Denmark Hill, London SE5 9RS, UK Paediatric Liver Unit, King's College Hospital, London, UK Abstract. Background : Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. Objective : To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. Materials and methods : Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. Results : Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects (

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